Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35638 | 107137;107138;107139 | chr2:178528839;178528838;178528837 | chr2:179393566;179393565;179393564 |
| N2AB | 33997 | 102214;102215;102216 | chr2:178528839;178528838;178528837 | chr2:179393566;179393565;179393564 |
| N2A | 33070 | 99433;99434;99435 | chr2:178528839;178528838;178528837 | chr2:179393566;179393565;179393564 |
| N2B | 26573 | 79942;79943;79944 | chr2:178528839;178528838;178528837 | chr2:179393566;179393565;179393564 |
| Novex-1 | 26698 | 80317;80318;80319 | chr2:178528839;178528838;178528837 | chr2:179393566;179393565;179393564 |
| Novex-2 | 26765 | 80518;80519;80520 | chr2:178528839;178528838;178528837 | chr2:179393566;179393565;179393564 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs758497512  |
-1.192 | 0.999 | D | 0.849 | 0.78 | 0.912328163995 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| W/C | rs758497512 |
-1.192 | 0.999 | D | 0.849 | 0.78 | 0.912328163995 | gnomAD-4.0.0 | 6.84157E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| W/R | rs1408667252 |
None | 0.991 | D | 0.875 | 0.828 | 0.914245553373 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1408667252 |
None | 0.991 | D | 0.875 | 0.828 | 0.914245553373 | gnomAD-4.0.0 | 6.84151E-07 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9938 | likely_pathogenic | 0.9961 | pathogenic | -2.827 | Highly Destabilizing | 0.91 | D | 0.836 | deleterious | None | None | None | None | N |
| W/C | 0.9975 | likely_pathogenic | 0.9985 | pathogenic | -1.65 | Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.550126417 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -3.423 | Highly Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| W/E | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -3.299 | Highly Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| W/F | 0.6946 | likely_pathogenic | 0.6988 | pathogenic | -1.781 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| W/G | 0.976 | likely_pathogenic | 0.9854 | pathogenic | -3.076 | Highly Destabilizing | 0.046 | N | 0.697 | prob.neutral | D | 0.550004261 | None | None | N |
| W/H | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -2.258 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| W/I | 0.9684 | likely_pathogenic | 0.9757 | pathogenic | -1.883 | Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.527 | Highly Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| W/L | 0.9273 | likely_pathogenic | 0.9404 | pathogenic | -1.883 | Destabilizing | 0.991 | D | 0.84 | deleterious | D | 0.550004261 | None | None | N |
| W/M | 0.9807 | likely_pathogenic | 0.9853 | pathogenic | -1.402 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| W/N | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -3.313 | Highly Destabilizing | 0.986 | D | 0.866 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.227 | Highly Destabilizing | 0.998 | D | 0.884 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.079 | Highly Destabilizing | 0.998 | D | 0.88 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.426 | Highly Destabilizing | 0.991 | D | 0.875 | deleterious | D | 0.550126417 | None | None | N |
| W/S | 0.9952 | likely_pathogenic | 0.9971 | pathogenic | -3.395 | Highly Destabilizing | 0.982 | D | 0.854 | deleterious | D | 0.550126417 | None | None | N |
| W/T | 0.9942 | likely_pathogenic | 0.9962 | pathogenic | -3.192 | Highly Destabilizing | 0.993 | D | 0.861 | deleterious | None | None | None | None | N |
| W/V | 0.9725 | likely_pathogenic | 0.9785 | pathogenic | -2.227 | Highly Destabilizing | 0.993 | D | 0.869 | deleterious | None | None | None | None | N |
| W/Y | 0.9063 | likely_pathogenic | 0.9117 | pathogenic | -1.65 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.